Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

Human Mutation

Volumn 32, Issue 12, 2011, Pages 1460-1469

  Esposito, Gabriella ^a,b   De Falco, Francesca ^c   Tinto, Nadia ^b   Testa, Francesco ^d   Vitagliano, Luigi ^e   Tandurella, Igor Cristian Maria ^a   Iannone, Lucio ^b   Rossi, Settimio ^d   Rinaldi, Ernesto ^d   Simonelli, Francesca ^d   Zagari, Adriana ^a,b   Salvatore, Francesco ^a,c  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c IRCCS SDN   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

^e CNR   (Italy)

Author keywords

CHM; Choroideremia; Modeling; Rab proteins; REP1

Indexed keywords

AMINO ACID; MESSENGER RNA; PROTEIN; RAB ESCORT PROTEIN 1; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; ASSAY; CHOROIDEREMIA; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; ITALY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ALKYL AND ARYL TRANSFERASES; CHILD, PRESCHOOL; CHOROIDEREMIA; DNA MUTATIONAL ANALYSIS; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; YOUNG ADULT;

EID: 81255136935     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21591     Document Type: Article

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